Canonical Allele Identifier: CA363617625

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164914-C-A
• MyVariant Identifiers: chr6:g.33132691C>A (hg19) ; chr6:g.33164914C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164914C>A , CM000668.2:g.33164914C>A	GRCh38
NC_000006.11:g.33132691C>A , CM000668.1:g.33132691C>A	GRCh37
NC_000006.10:g.33240669C>A	NCBI36
NG_011589.1:g.32555G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.607G>T
ENST00000341947.7:c.4801G>T MANE Select	ENSP00000339915.2:p.Val1601Phe
ENST00000341947.6:c.4801G>T	ENSP00000339915.2:p.Val1601Phe
ENST00000361917.5:c.4480G>T	ENSP00000355123.1:p.Val1494Phe
ENST00000374708.8:c.4543G>T	ENSP00000363840.4:p.Val1515Phe
ENST00000477772.1:n.591G>T
NM_080679.2:c.4480G>T	NP_542410.2:p.Val1494Phe
NM_080680.2:c.4801G>T	NP_542411.2:p.Val1601Phe
NM_080681.2:c.4543G>T	NP_542412.2:p.Val1515Phe
XM_011514298.1:c.3955G>T	XP_011512600.1:p.Val1319Phe
XM_011514299.1:c.4087G>T	XP_011512601.1:p.Val1363Phe
XM_011514300.1:c.3907G>T	XP_011512602.1:p.Val1303Phe
XM_011514301.1:c.3844G>T	XP_011512603.1:p.Val1282Phe
XM_011514302.1:c.3688G>T	XP_011512604.1:p.Val1230Phe
XM_011514299.2:c.4087G>T	XP_011512601.1:p.Val1363Phe
XM_011514300.2:c.3907G>T	XP_011512602.1:p.Val1303Phe
XM_011514302.2:c.3688G>T	XP_011512604.1:p.Val1230Phe
XM_017010250.1:c.4801G>T	XP_016865739.1:p.Val1601Phe
XM_017010251.2:c.3619G>T	XP_016865740.1:p.Val1207Phe
NM_080680.3:c.4801G>T MANE Select	NP_542411.2:p.Val1601Phe
NM_080681.3:c.4543G>T	NP_542412.2:p.Val1515Phe
NM_080679.3:c.4480G>T	NP_542410.2:p.Val1494Phe